Related gene-specific medical variations for Gene (Select 1678) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1312519	NC_000023.11:g.101345283_101347393del	TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 987116	NM_004085.4(TIMM8A):c.133-1G>T	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 505119	NM_004085.4(TIMM8A):c.-8G>T	LOC130068494, TIMM8A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 165400	NM_004085.4(TIMM8A):c.-11G>T	LOC130068494, TIMM8A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137659	NM_004085.4(TIMM8A):c.-6C>T	LOC130068494, TIMM8A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 21394	NM_004085.4(TIMM8A):c.503_505dup	TIMM8A	Duplication (3 prime UTR variant)	Deafness dystonia syndrome	GBenign
Select item 21393	NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)	TIMM8A (Q38*)	Single nucleotide variant (nonsense)	Deafness dystonia syndrome	Gnot provided

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